1,476 results on '"Rolfs, Arndt"'
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2. Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency
3. Pontine autosomal dominant microangiopathy with leukoencephalopathy: Col4A1 gene variants in the original family and sporadic stroke
4. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years
5. Genetic study of early-onset Parkinson's disease in the Malaysian population
6. A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
7. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
8. Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
9. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center
10. Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes
11. Radiomics-Derived Brain Age Predicts Functional Outcome After Acute Ischemic Stroke
12. Differently increased volumes of multiple brain areas in Npc1 mutant mice following various drug treatments.
13. Association of Stroke Lesion Pattern and White Matter Hyperintensity Burden With Stroke Severity and Outcome
14. Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani Children
15. Venglustat in GBA1-related Parkinson's disease
16. Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
17. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
18. Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
19. HAE patient self-sampling for biomarker establishment
20. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment
21. A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
22. Role of endoplasmic reticulum stress and protein misfolding in disorders of the liver and pancreas
23. Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease.
24. Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study
25. Rapid home therapy infusion of velaglucerase alfa in naïve patients with Gaucher disease
26. Lovastatin promotes myelin formation in NPC1 mutant oligodendrocytes
27. Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD
28. Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations
29. Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
30. Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility
31. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism
32. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
33. A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay
34. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes
35. Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability
36. Contribution of Glucosylsphingosine (Lyso-Gb1) to Treatment Decisions in Patients with Gaucher Disease
37. Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions
38. Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
39. Contribution of lyso-Gb1 to treatment decisions in patients with Gaucher disease
40. Frequency of non-motor symptoms in Parkinson's disease patients carrying the E326K and T369M GBA risk variants
41. Secondary findings in a large Pakistani cohort tested with whole genome sequencing
42. Diagnostic tardiv de tulburare de spectru autist şi sindrom Sotos la un pacient cu simptomatologie atipică în copilăria timpurie
43. Additional evidence on the phenotype produced by combination of CFTR 1677delTA alleles and their relevance in causing CFTR-related disease
44. Serum magnesium and calcium levels in relation to ischemic stroke: Mendelian randomization study
45. Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome
46. A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1
47. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
48. Proteomics of the corpus callosum to identify novel factors involved in hypomyelinated Niemann-Pick Type C disease mice
49. Genotypes and phenotypes of Sri Lankan Patients with Mucopolysaccharidosis type IVA
50. Organ Weights in NPC1 Mutant Mice Partly Normalized by Various Pharmacological Treatment Approaches
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